Canonical Allele Identifier: CA477359413
Gene: KMT2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118374021T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503306T>C , CM000673.2:g.118503306T>C GRCh38
NC_000011.9:g.118374021T>C , CM000673.1:g.118374021T>C GRCh37
NC_000011.8:g.117879231T>C NCBI36
NG_027813.1:g.71817T>C , LRG_613:g.71817T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7513T>C ENSP00000432391.3:p.Leu2505=
ENST00000710560.1:c.7504T>C ENSP00000518343.1:p.Leu2502=
ENST00000649878.2:c.1453T>C ENSP00000497891.2:p.Leu485=
ENST00000685397.1:c.1453T>C ENSP00000509586.1:p.Leu485=
ENST00000686370.1:c.1453T>C ENSP00000509179.1:p.Leu485=
ENST00000689424.1:c.1711T>C ENSP00000509852.1:p.Leu571=
ENST00000691053.1:c.7486T>C ENSP00000509168.1:p.Leu2496=
ENST00000389506.10:c.7405T>C ENSP00000374157.5:p.Leu2469=
ENST00000528278.2:n.6756T>C
ENST00000534358.8:c.7414T>C MANE Select ENSP00000436786.2:p.Leu2472=
ENST00000649699.1:c.7291T>C ENSP00000496927.1:p.Leu2431=
ENST00000389506.9:c.7405T>C ENSP00000374157.5:p.Leu2469=
ENST00000528278.1:n.1541T>C
ENST00000534358.5:c.7414T>C ENSP00000436786.1:p.Leu2472=
NM_001197104.1:c.7414T>C , LRG_613t1:c.7414T>C NP_001184033.1:p.Leu2472=
NM_005933.3:c.7405T>C NP_005924.2:p.Leu2469=
XM_006718839.2:c.4897T>C XP_006718902.2:p.Leu1633=
XM_011542829.1:c.7513T>C XP_011541131.1:p.Leu2505=
XM_011542830.1:c.7510T>C XP_011541132.1:p.Leu2504=
XM_011542831.1:c.7504T>C XP_011541133.1:p.Leu2502=
XM_011542832.1:c.5320T>C XP_011541134.1:p.Leu1774=
XM_011542833.1:c.4996T>C XP_011541135.1:p.Leu1666=
XM_006718839.3:c.4897T>C XP_006718902.2:p.Leu1633=
XM_011542829.2:c.7513T>C XP_011541131.1:p.Leu2505=
XM_011542830.2:c.7510T>C XP_011541132.1:p.Leu2504=
XM_011542831.2:c.7504T>C XP_011541133.1:p.Leu2502=
XM_011542833.2:c.4996T>C XP_011541135.1:p.Leu1666=
NM_001197104.2:c.7414T>C MANE Select NP_001184033.1:p.Leu2472=
NM_005933.4:c.7405T>C NP_005924.2:p.Leu2469=